Linked Data
ClinVar Variation Id:
2984337
ClinVar RCV Id:
RCV003843496
dbSNP Id:
rs1258089742
gnomAD v2:
4-146560744-G-T
gnomAD v4:
4-145639592-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639592G>T , CM000666.2:g.145639592G>T | GRCh38 |
| NC_000004.11:g.146560744G>T , CM000666.1:g.146560744G>T | GRCh37 |
| NC_000004.10:g.146780194G>T | NCBI36 |
| NG_007536.1:g.25295G>T | |
| NG_007536.2:g.45551G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.439+14G>T | ENSP00000442284.3:n.439+14G>T | |
| ENST00000647947.1:c.453G>T | ENSP00000496781.1:p.Leu151Phe | |
| ENST00000648388.1:c.439+14G>T | ENSP00000497046.1:n.439+14G>T | |
| ENST00000649156.2:c.439+14G>T MANE Select | ENSP00000497008.1:n.439+14G>T | |
| ENST00000649173.1:c.439+14G>T | ENSP00000497871.1:n.439+14G>T | |
| ENST00000649704.1:c.439+14G>T | ENSP00000497680.1:n.439+14G>T | |
| ENST00000679563.1:c.439+14G>T | ENSP00000506503.1:n.439+14G>T | |
| ENST00000679930.1:c.435+18G>T | ENSP00000506293.1:n.435+18G>T | |
| ENST00000281317.9:c.439+14G>T | ENSP00000281317.5:n.439+14G>T | |
| ENST00000506919.1:n.927+14G>T | ||
| ENST00000511969.4:c.439+14G>T | ENSP00000427422.1:n.439+14G>T | |
| ENST00000541599.4:c.439+14G>T | ENSP00000442284.2:n.439+14G>T | |
| NM_172250.2:c.439+14G>T | NP_758454.1:n.439+14G>T | |
| XM_011531684.1:c.439+14G>T | XP_011529986.1:n.439+14G>T | |
| XM_011531685.1:c.439+14G>T | XP_011529987.1:n.439+14G>T | |
| NM_172250.3:c.439+14G>T MANE Select | NP_758454.1:n.439+14G>T | |
| XM_011531684.3:c.439+14G>T | XP_011529986.1:n.439+14G>T | |
| XM_011531685.2:c.439+14G>T | XP_011529987.1:n.439+14G>T | |
| XM_011531686.2:c.-331G>T | XP_011529988.1:n.-331G>T | |
| NM_001375644.1:c.439+14G>T | NP_001362573.1:n.439+14G>T |